학술논문


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'학술논문' 에서 검색결과 499건 | 목록 1~20
Academic Journal
Salpietro, VincenzoMaroofian, RezaZaki, Maha S.Wangen, JamieCiolfi, AndreaBarresi, SabinaEfthymiou, StephanieLamaze, AngeliqueAughey, Gabriel N.Al Mutairi, FuadRad, AboulfazlRocca, ClarissaCalì, ElisaAccogli, AndreaZara, FedericoStriano, PasqualeMojarrad, MajidTariq, HumaGiacopuzzi, EdoardoTaylor, Jenny C.Oprea, GabrielaSkrahina, VolhaRehman, Khalil UrAbd Elmaksoud, MarwaBassiony, MahmoudEl Said, Huda G.Abdel-Hamid, Mohamed S.Al Shalan, MahaSeo, GohunKim, SohyunLee, HaneKhang, RinIssa, Mahmoud Y.Elbendary, Hasnaa M.Rafat, KarimaMarinakis, Nikolaos M.Traeger-Synodinos, JoanneVerveri, AthinaSourmpi, MaraEslahi, AtiehKhadivi Zand, FarhadBeiraghi Toosi, MehranBabaei, MeisamJackson, AdamHannah, Michael G.Bugiardini, EnricoBertini, EnricoKriouile, YamnaEl-Khorassani, MohamedAguennouz, MhammedGroppa, StanislavKarashova, Blagovesta M.Goraya, Jatinder S.Sultan, TipuAvdjieva, DanielaKathom, HadilTincheva, RadkaBanu, SelinaVeggiotti, PierangeloVerrotti, AlbertoLanari, MarcelloSavasta, SalvatoreMacaya, AlfonsGaravaglia, BarbaraBorgione, EugeniaPapacostas, SavvasVikelis, MichailChelban, VioricaKaiyrzhanov, RauanCortese, AndreaSullivan, RoisinPapanicolaou, Eleni Z.Dardiotis, EfthymiosMaqbool, ShaziaIbrahim, ShahnazKirmani, SalmanRana, Nuzhat N.Atawneh, OsamaLim, Shen-YangZuccotti, Gian V.Marseglia, Gian L.Esposito, SusannaShaikh, FarooqCogo, PaolaCorsello, GiovanniMangano, SalvatoreNardello, RosariaMangano, DonatoScardamaglia, AnnaritaKoutsis, GeorgeScuderi, CarmelaFerrara, PietroMorello, GiovannaZollo, MassimoBerni-Canani, RobertoTerracciano, Luigi M.Sisto, AntonioDi Fabio, SandraStrano, FedericaScorrano, GiovannaDi Bella, SaverioDi Francesco, LudovicaManizha, GanievaIsrofilov, MaksudGuliyeva, UlviyyaSalayev, KamranKhachatryan, SamsonXiromerisiou, GeorgiaSpanaki, CleantheFiorillo, ChiaraIacomino, MicheleGaudio, EugenioMunell, FrancinaGagliano, AntonellaJan, FaridaChimenz, RobertoGitto, EloisaIughetti, LorenzoDi Rosa, GabriellaMaghnie, MohamadPettoello-Mantovani, MassimoGupta, NeerjaKabra, MadhulikaBenrhouma, HaneneTazir, MeriemBottone, GabriellaFarello, GiovanniDelvecchio, MaurizioDi-Donato, GiulioObeid, MakramBakhtadze, SophiaSaadi, Nebal W.Miraglia-Del-Giudice, MicheleMaccarone, RitaTriki, Chahnez C.Kara, MajdiKarimiani, Ehsan G.Salih, Ahmed M.Ramenghi, Luca A.Seri, MarcoDi-Falco, GiovannaMandarà, LuanaBarrano, GiuseppeElisa, MaurizioCherubini, EnricoOperto, Francesca F.Valenzise, MariellaCattaneo, AntoninoZazzeroni, FrancescaAlesse, EdoardoMatricardi, SaraZafar, FaisalUllah, EhsanAfzal, ErumRahman, FatimaAhmed, Muhammad M.Parisi, PasqualeSpalice, AlbertoDe Filippo, MariaLicari, AmeliaTrebbi, EdoardoRomano, FerdinandoHeimer, GaliAl-Khawaja, IssamAl-Mutairi, FuadAlkuraya, Fowzan S.Rizig, MieShashkin, ChingizZharkynbekova, NaziraKoneyev, KairgaliBertoli-Avella, AidaPagnamenta, Alistair T.Niceta, MarcelloBattini, RobertaCorsello, AntonioLeoni, ChiaraChiarelli, FrancescoDallapiccola, BrunoFaqeih, Eissa AliTallur, Krishnaraya K.Alfadhel, MajidAlobeid, EmanMaddirevula, SateeshMankad, KshitijBanka, SiddharthGhayoor-Karimiani, EhsanTartaglia, MarcoChung, Wendy K.Green, RachelJepson, James E. C.Houlden, Henry
Am J Hum Genet
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
Academic Journal
Alderson, D.Bundred, J.Evans, R. P. T.Gossage, J.Griffiths, E. A.Jefferies, B.Kamarajah, S. K.McKay, S.Mohamed, I.Nepogodiev, D.Siaw-Acheampong, KSingh, P.van Hillegersberg, R.Vohra, R.Wanigasooriya, K.Whitehouse, T.Gjata, A.Moreno, J. I.Takeda, F. R.Kidane, B.Guevara Castro, RHarustiak, T.Bekele, A.Kechagias, A.Gockel, I.Kennedy, A.Da Roit, A.Bagajevas, A.Azagra, J. S.Mahendran, H. A.Mejía-Fernández, L.Wijnhoven, B. P. L.El Kafsi, JSayyed, R. H.Sousa, M.Sampaio, A. S.Negoi, I.Blanco, R.Wallner, B.Schneider, P. M.Hsu, P. K.Isik, A.Gananadha, S.Wills, V.Devadas, M.Duong, C.Talbot, M.Hii, M. W.Jacobs, R.Andreollo, N. A.Johnston, B.Darling, G.Isaza-Restrepo, A.Rosero, G.Arias-Amézquita, FRaptis, D.Gaedcke, J.Reim, D.Izbicki, J.Egberts, J. H.Dikinis, S.Kjaer, D. W.Larsen, M. H.Achiam, M. P.Saarnio, J.Theodorou, D.Liakakos, T.Korkolis, D. P.Robb, W. B.Collins, C.Murphy, T.Reynolds, J.Tonini, V.Migliore, M.Bonavina, L.Valmasoni, M.Bardini, R.Weindelmayer, J.Terashima, M.White, R. E.Alghunaim, E.Elhadi, M.Leon-Takahashi, A. M.Medina-Franco, H.Lau, P. C.Okonta, K. E.Heisterkamp, J.Rosman, C.Beban, G.Babor, R.Gordon, A.Rossaak, J. I.Pal, K. M. I.Qureshi, A. U.Naqi, S. A.Syed, A. A.Barbosa, J.Vicente, C. S.Leite, J.Freire, J.Casaca, R.Costa, R. C. T.Scurtu, R. R.Mogoanta, S. S.Bolca, C.Constantinoiu, S.Sekhniaidze, D.Bjelović, M.So, J. B. Y.Gačevski, G.Loureiro, C.Pera, M.Bianchi, A.Moreno Gijón, MMartín Fernández, JTrugeda Carrera, MSVallve-Bernal, M.Cítores Pascual, MAElmahi, S.Halldestam, I.Hedberg, J.Mönig, S.Gutknecht, S.Tez, M.Guner, A.Tirnaksiz, M. B.Colak, E.Sevinç, B.Hindmarsh, A.Khan, I.Khoo, D.Byrom, R.Gokhale, J.Wilkerson, P.Jain, P.Chan, D.Robertson, K.Iftikhar, S.Skipworth, R.Forshaw, M.Higgs, S.Nijjar, R.Viswanath, Y. K. S.Turner, P.Dexter, S.Boddy, A.Allum, W. H.Oglesby, S.Cheong, E.Beardsmore, D.Maynard, N.Berrisford, R.Mercer, S.Puig, S.Melhado, R.Kelty, C.Underwood, T.Dawas, K.Lewis, W.Al-Bahrani, A.Bryce, G.Thomas, M.Arndt, A. T.Palazzo, F.Meguid, R. A.Fergusson, J.Beenen, E.Mosse, C.Salim, J.Cheah, S.Wright, T.Cerdeira, M. P.McQuillan, P.Richardson, M.Liem, H.Spillane, J.Yacob, M.Albadawi, F.Thorpe, T.Dingle, A.Cabalag, C.Loi, K.Fisher, O. M.Ward, S.Read, M.Johnson, M.Bassari, R.Bui, H.Cecconello, I.Sallum, R. A. A.da Rocha, J. R. M.Lopes, L. R.Tercioti, V.Coelho, J. D. S.Ferrer, J. A. P.Buduhan, G.Tan, L.Srinathan, S.Shea, P.Yeung, J.Allison, F.Carroll, P.Vargas-Barato, F.Gonzalez, F.Ortega, J.Nino-Torres, L.Beltrán-García, T. C.Castilla, L.Pineda, M.Bastidas, A.Gómez-Mayorga, J.Cortés, N.Cetares, C.Caceres, S.Duarte, S.Pazdro, A.Snajdauf, M.Faltova, H.Sevcikova, M.Mortensen, P. B.Katballe, N.Ingemann, T.Morten, B.Kruhlikava, I.Ainswort, A. P.Stilling, N. M.Eckardt, J.Holm, J.Thorsteinsson, M.Siemsen, M.Brandt, B.Nega, B.Teferra, E.Tizazu, A.Kauppila, J. H.Koivukangas, V.Meriläinen, S.Gruetzmann, R.Krautz, C.Weber, G.Golcher, H.Emons, G.Azizian, A.Ebeling, M.Niebisch, S.Kreuser, N.Albanese, G.Hesse, J.Volovnik, L.Boecher, U.Reeh, M.Triantafyllou, S.Schizas, D.Michalinos, A.Balli, E.Mpoura, M.Charalabopoulos, A.Manatakis, D. K.Balalis, D.Bolger, J.Baban, C.Mastrosimone, A.McAnena, O.Quinn, A.Ó Súilleabháin, C. B.Hennessy, M. M.Ivanovski, I.Khizer, H.Ravi, N.Donlon, N.Cervellera, M.Vaccari, S.Bianchini, S.Sartarelli, lAsti, E.Bernardi, D.Merigliano, S.Provenzano, L.Scarpa, M.Saadeh, L.Salmaso, B.De Manzoni, G.Giacopuzzi, S.La Mendola, R.De Pasqual, C. A.Tsubosa, Y.Niihara, M.Irino, T.Makuuchi, R.Ishii, K.Mwachiro, M.Fekadu, A.Odera, A.Mwachiro, E.AlShehab, D.Ahmed, H. A.Shebani, A. O.Elhadi, A.Elnagar, F. A.Elnagar, H. F.Makkai-Popa, S. T.Wong, L. F.Tan, Y. R.Thannimalai, S.Ho, C. A.Pang, W. S.Tan, J. H.Basave, H. N. L.Cortés-González, R.Lagarde, S. M.van Lanschot, J. J. B.Cords, C.Jansen, W. A.Martijnse, I.Matthijsen, R.Bouwense, S.Klarenbeek, B.Verstegen, M.van Workum, F.Ruurda, J. P.van der Sluis, P. C.de Maat, M.Evenett, N.Johnston, P.Patel, R.MacCormick, A.Young, M.Smith, B.Ekwunife, C.Memon, A. H.Shaikh, K.Wajid, A.Khalil, N.Haris, M.Mirza, Z. U.Qudus, S. B. A.Sarwar, M. Z.Shehzadi, A.Raza, A.Jhanzaib, M. H.Farmanali, J.Zakir, Z.Shakeel, O.Nasir, I.Khattak, S.BaigNoor, M. MAAhmed, H. H.Naeem, A.Pinho, A. C.da Silva, R.Bernardes, A.Campos, J. C.Matos, H.Braga, T.Monteiro, C.Ramos, P.Cabral, F.Gomes, M. P.Martins, P. C.Correia, A. M.Videira, J. F.Ciuce, C.Drasovean, R.Apostu, R.Paitici, S.Racu, A. E.Obleaga, C. V.Beuran, M.Stoica, B.Ciubotaru, C.Negoita, V.Cordos, I.Birla, R. D.Predescu, D.Hoara, P. A.Tomsa, R.Shneider, V.Agasiev, M.Ganjara, I.Gunjić, D.Veselinović, M.Babič, T.Chin, T. S.Shabbir, A.Kim, G.Díez del Val, ILeturio, S.Ramón, J. M.Dal Cero, MRifá, S.Rico, M.Pagan Pomar, AMartinez Corcoles, J. A.Rodicio Miravalles, J. L.Pais, S. A.Turienzo, S. A.Alvarez, L. S.Campos, P. V.Rendo, A. G.García, S. S.Santos, E. P. G.Martínez, E. T.Fernández Díaz, M. J.Magadán Álvarez, CConcepción Martín, VDíaz López, CRosat Rodrigo, APérez Sánchez, L. E.Bailón Cuadrado, MTinoco Carrasco, CChoolani Bhojwani, ESánchez, D. P.Ahmed, M. E.Dzhendov, T.Lindberg, F.Rutegård, M.Sundbom, M.Mickael, C.Colucci, N.Schnider, A.Er, S.Kurnaz, E.Turkyilmaz, S.Turkyilmaz, A.Yildirim, R.Baki, B. E.Akkapulu, N.Karahan, O.Damburaci, N.Hardwick, R.Safranek, P.Sujendran, V.Bennett, J.Afzal, Z.Shrotri, M.Chan, B.Exarchou, K.Gilbert, T.Amalesh, T.Mukherjee, D.Mukherjee, S.Wiggins, T. H.Kennedy, R.McCain, S.Harris, A.Dobson, G.Davies, N.Wilson, I.Mayo, D.Bennett, D.Young, R.Manby, P.Blencowe, N.Schiller, M.Byrne, B.Mitton, D.Wong, V.Elshaer, A.Cowen, M.Menon, V.Tan, L. C.McLaughlin, E.Koshy, R.Sharp, C.Brewer, H.Das, N.Cox, M.Al Khyatt, W.Worku, D.Iqbal, R.Walls, L.McGregor, R.Fullarton, G.Macdonald, A.MacKay, C.Craig, C.Dwerryhouse, S.Hornby, S.Jaunoo, S.Wadley, M.Baker, C.Saad, M.Kelly, M.Davies, A.Di Maggio, F.Mistry, P.Singhal, R.Tucker, O.Kapoulas, S.Powell-Brett, S.Davis, P.Bromley, G.Watson, L.Verma, R.Ward, J.Shetty, V.Ball, C.Pursnani, K.Sarela, A.Sue Ling, HMehta, S.Hayden, J.To, N.Palser, T.Hunter, D.Supramaniam, K.Butt, Z.Ahmed, A.Kumar, S.Chaudry, A.Moussa, O.Kordzadeh, A.Lorenzi, B.Wilson, M.Patil, P.Noaman, I.Willem, J.Bouras, G.Evans, R.Singh, M.Warrilow, H.Ahmad, A.Tewari, N.Yanni, F.Couch, J.Theophilidou, E.Reilly, J. J.van Boxel, GijsAkbari, K.Zanotti, D.Sgromo, B.Sanders, G.Wheatley, T.Ariyarathenam, A.Reece-Smith, A.Humphreys, L.Choh, C.Carter, N.Knight, B.Pucher, P.Athanasiou, A.Tan, B.Abdulrahman, M.Vickers, J.Akhtar, K.Chaparala, R.Brown, R.Alasmar, M. M. A.Ackroyd, R.Patel, K.Tamhankar, A.Wyman, A.Walker, R.Grace, B.Abbassi, N.Slim, N.Ioannidi, L.Blackshaw, G.Havard, T.Escofet, X.Powell, A.Owera, A.Rashid, F.Jambulingam, P.Padickakudi, J.Ben-Younes, H.Mccormack, K.Makey, I. A.Karush, M. K.Seder, C. W.Liptay, M. J.Chmielewski, G.Rosato, E. L.Berger, A. C.Zheng, R.Okolo, E.Singh, A.Scott, C. D.Weyant, M. J.Mitchell, J. D.
BMC Surgery. May 22, 2025, Vol. 25 Issue 1
Academic Journal
Alistair T. PagnamentaCarme CampsEdoardo GiacopuzziJohn M. TaylorMona HashimEduardo CalpenaPamela J. KaisakiAkiko HashimotoJing YuEdward SandersRon SchwessingerJim R. HughesGerton LunterHelene DreauMatteo FerlaLukas LangeYesim KesimVassilis RagoussisDimitrios V. VavoulisHolger AllroggenOlaf AnsorgeChristian BabbsSiddharth BankaBenito Baños-PiñeroDavid BeesonTal Ben-AmiDavid L. BennettCeleste BentoEdward BlairCharlotte Brasch-AndersenKatherine R. BullHolger CarioDeirdre CilliersValerio ContiE. Graham DaviesFatima DhallaBeatriz Diez DacalYin DongJames E. DunfordRenzo GuerriniAdrian L. HarrisJane HartleyGeorg HollanderKassim JavaidMaureen KaneDeirdre KellyDominic KellySamantha J. L. KnightAlexandra Y. KreinsErika M. KvikstadCraig B. LangmanTracy LesterKate E. LinesSimon R. LordXin LuSahar MansourAdnan ManzurReza MaroofianBrian MarsdenJoanne MasonSimon J. McGowanDavide MeiHana MlcochovaYoshiko MurakamiAndrea H. NémethSteven OkoliElizabeth OrmondroydLilian Bomme OusagerJacqueline PalaceSmita Y. PatelMelissa M. PentonyChris PughAboulfazl RadArchana RameshSimone G. RivaIrene RobertsNoémi RoyOuti SalminenKyleen D. SchillingCaroline ScottArjune SenConrad SmithMark StevensonRajesh V. ThakkerStephen R. F. TwiggHolm H. UhligRichard van WijkBarbara VonaSteven WallJing WangHugh WatkinsJaroslav ZakAnna H. SchuhUsha KiniAndrew O. M. WilkieNiko PopitschJenny C. Taylor
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Academic Journal
Cisternino F; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy.; Ometto S; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy.; Chatterjee S; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy.; Giacopuzzi E; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy.; Levine AP; Research Department of Pathology, University College London, London, UK.; Glastonbury CA; Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy. craig.glastonbury@fht.org.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Academic Journal
Watts LM; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.; Bunyan DJ; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK.; Giacopuzzi E; Human Technopole, Milan 20157, Italy.; Walker S; Genomics England, London E14 5AB, UK.; Gazdagh G; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.; Thomas NS; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK.; Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.; Childs AM; Paediatric Neuromuscular Disease Unit, Leeds Teaching Hospitals Trust, Leeds LS1 3EX, UK.; Forsyth J; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK.; Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK.; Khan S; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK.; Willis TA; Muscle Team, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry, Shropshire SY10 7AG, UK.; Taylor JC; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Pagnamenta AT; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter EX2 5DW, UK.
Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Academic Journal
Aughey GN; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Cali E; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Maroofian R; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt.; Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Charbagh, Swat, Khyber Pakhtunkhwa 19120, Pakistan.; Abdulllah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi 46300, Pakistan.; Rahman F; Department of Developmental-Behavioral Pediatrics, The Children's Hospital, University of Child Health Sciences (UCHS-CH), Lahore 54600, Pakistan.; Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Shafique A; School of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan.; Suri M; UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK.; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK.; Roze E; INSERM, CNRS, Sorbonne University, Paris Brain Institute, Salpêtrière Hospital/AP-HP, Paris 75013, France.; Aguennouz M; Department of Clinical and Experimental Medicine, University of Messina, Messina 98122, Italy.; Ghizlane Z; Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco.; Saadi SM; Human Molecular Genetics Laboratory, NIBGE-PIEAS, Faisalabad 61010, Pakistan.; Fatima A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Karachi City, Sindh 74800, Pakistan.; Cheema HA; Department of Paediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital, University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Anjum MN; Department of Paediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital, University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Morel G; Service de Génétique, CHU (Centre Hospitalier Universitaire) de La Réunion, Reunion Island, 97400 Saint-Denis, France.; Robin S; Service de Génétique, CHU (Centre Hospitalier Universitaire) de La Réunion, Reunion Island, 97400 Saint-Denis, France.; McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK.; Altunoglu U; Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul 34450, Turkey.; Kraus V; Technical University of Munich, Faculty of Medicine, Chair of Social Pediatrics, Heiglhofstr. 65, 81377 Munich, Germany.; Shoukier M; Prenatal Medicine Munich, Lachnerstrasse 20, Munich 80639, Germany.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Flemming K; Department of Pediatric Rehabilitation, University Hospital Northern Norway, Tromsø 9019, Norway.; Yttervik H; Department of Medical Genetics, University Hospital of North Norway, Tromsø 9038, Norway.; Rhouda H; Department of Clinical and Experimental Medicine, University of Messina, Messina 98122, Italy.; Lesca G; Genetics Department, Hospices Civils de Lyon, Lyon 69002, France.; Chatron N; Genetics Department, Hospices Civils de Lyon, Lyon 69002, France.; Rossi M; Genetics Department, Hospices Civils de Lyon, Lyon 69002, France.; GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon 69675, France.; Murtaza BN; Department of Zoology, Abbottabad University of Science and Technology, KP 22500, Pakistan.; Ur Rehman M; Department of Zoology, Abbottabad University of Science and Technology, KP 22500, Pakistan.; Lord J; Sheffield Institute for Translational Neuroscience, The University of Sheffield, Sheffield S10 2HQ, UK.; Giacopuzzi E; Technopole, Milan 20157, Italy.; Hayat A; Department of MLT, Abbottabad University of Science and Technology KP, Abbottabad 22500, Pakistan.; Siraj M; Department of Zoology, Abbottabad University of Science and Technology KP, Abbottabad 22500, Pakistan.; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Genomics England, London E14 5AB, UK.; Shervin Badv R; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran 14197 33151, Iran.; Seo GH; 3billion inc, 416 Teheran-ro, Gangnam-gu, Seoul, Republic of Korea.; Beetz C; Department of Genomic Insights, Centogene GmbH, Rostock 18055, Germany.; Kayserili H; Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul 34450, Turkey.; Krioulie Y; Department of Clinical and Experimental Medicine, University of Messina, Messina 98122, Italy.; Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Naz S; School of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan.; Maqbool S; Department of Developmental-Behavioral Pediatrics, The Children's Hospital, University of Child Health Sciences (UCHS-CH), Lahore 54600, Pakistan.; Chandler KE; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Kershaw CJ; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Wright T; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.; Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Taylor JC; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Efthymiou S; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Baig SM; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Karachi City, Sindh 74800, Pakistan.; Faculty of Life Sciences, Health Services Academy, Islamabad 44000, Pakistan.; Severino M; UO Neuroradiologia, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Jepson JEC; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Houlden H; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Updates in Surgery. June, 2018, Vol. 70 Issue 2, p167, 5 p.
Academic Journal
Griffiths, Ewen A.Halle-Smith, J.M.Kamarajah, S.K.Evans, R.P.T.Nepogodiev, D.Hodson, J.Bundred, J.R.Gockel, I.Gossage, J.A.Isik, A.Kauppila, J.H.Kidane, B.Mahendran, H.A.Negoi, I.Okonta, K.E.Sayyed, R.van Hillegersberg, R.Vohra, R.S.Wijnhoven, B.P.L.Singh, P.Griffiths, E.A.Alderson, D.Bundred, J.Gossage, J.Jefferies, B.McKay, S.Mohamed, I.Siaw- Acheampong, K.Vohra, R.Wanigasooriya, K.Whitehouse, T.Gjata, A.Moreno, J.I.Takeda, F.R.Guevara Castro, R.Bekele, A.Harustiak, T.Kechagias, A.Bagajevas, A.Kennedy, A.Da Roit, A.Azagra, J.S.Mejía-Fernández, L.El Kafsi, J.Sayyed, R.H.Sousa, M.Sampaio, A.S.Blanco, R.Wallner, B.Schneider, P.M.Hsu, P.K.Gananadha, S.Wills, V.Devadas, M.Duong, C.Talbot, M.Hii, M.W.Jacobs, R.Andreollo, N.A.Johnston, B.Darling, G.Isaza-Restrepo, A.Rosero, G.Arias- Amézquita, F.Raptis, D.Gaedcke, J.Reim, D.Izbicki, J.Egberts, J.H.Dikinis, S.Kjaer, D.W.Larsen, M.H.Achiam, M.P.Saarnio, J.Theodorou, D.Liakakos, T.Korkolis, D.P.Robb, W.B.Collins, C.Murphy, T.Reynolds, J.Tonini, V.Migliore, M.Bonavina, L.Valmasoni, M.Bardini, R.Weindelmayer, J.Terashima, M.White, R.E.Alghunaim, E.Elhadi, M.Leon-Takahashi, A.M.Medina-Franco, H.Lau, P.C.Heisterkamp, J.Rosman, C.Beban, G.Babor, R.Gordon, A.Rossaak, J.I.Pal, K.M.I.Qureshi, A.U.Naqi, S.A.Syed, A.A.Barbosa, J.Vicente, C.S.Leite, J.Freire, J.Casaca, R.Costa, R.C.T.Scurtu, R.R.Mogoanta, S.S.Bolca, C.Constantinoiu, S.Sekhniaidze, D.Bjelović, M.So, J.B.Y.Gačevski, G.Loureiro, C.Pera, M.Bianchi, A.Moreno Gijón, M.Martín Fernández, J.Trugeda Carrera, M.S.Vallve-Bernal, M.Cítores Pascual, M.A.Elmahi, S.Halldestam, I.Hedberg, J.Mönig, S.Gutknecht, S.Tez, M.Guner, A.Tirnaksiz, M.B.Colak, E.Sevinç, B.Hindmarsh, A.Khan, I.Khoo, D.Byrom, R.Gokhale, J.Wilkerson, P.Jain, P.Chan, D.Robertson, K.Iftikhar, S.Skipworth, R.Forshaw, M.Higgs, S.Nijjar, R.Viswanath, Y.K.S.Turner, P.Dexter, S.Boddy, A.Allum, W.H.Oglesby, S.Cheong, E.Beardsmore, D.Maynard, N.Berrisford, R.Mercer, S.Puig, S.Melhado, R.Kelty, C.Underwood, T.Dawas, K.Lewis, W.Al-Bahrani, A.Bryce, G.Thomas, M.Arndt, A.T.Palazzo, F.Meguid, R.A.Fergusson, J.Beenen, E.Mosse, C.Salim, J.Cheah, S.Wright, T.Cerdeira, M.P.McQuillan, P.Richardson, M.Liem, H.Spillane, J.Yacob, M.Albadawi, F.Thorpe, T.Dingle, A.Cabalag, C.Loi, K.Fisher, O.M.Ward, S.Read, M.Johnson, M.Bassari, R.Bui, H.Cecconello, I.Sallum, R.A.A.da Rocha, J.R.M.Lopes, L.R.Tercioti, V.Coelho, J.D.S.Ferrer, J.A.P.Buduhan, G.Tan, L.Srinathan, S.Shea, P.Yeung, J.Allison, F.Carroll, P.Vargas-Barato, F.Gonzalez, F.Ortega, J.Nino-Torres, L.Beltrán-García, T.C.Castilla, L.Pineda, M.Bastidas, A.Gómez-Mayorga, J.Cortés, N.Cetares, C.Caceres, S.Duarte, S.Pazdro, A.Snajdauf, M.Faltova, H.Sevcikova, M.Mortensen, P.B.Katballe, N.Ingemann, T.Morten, B.Kruhlikava, I.Ainswort, A.P.Stilling, N.M.Eckardt, J.Holm, J.Thorsteinsson, M.Siemsen, M.Brandt, B.Nega, B.Teferra, E.Tizazu, A.Koivukangas, V.Meriläinen, S.Gruetzmann, R.Krautz, C.Weber, G.Golcher, H.Emons, G.Azizian, A.Ebeling, M.Niebisch, S.Kreuser, N.Albanese, G.Hesse, J.Volovnik, L.Boecher, U.Reeh, M.Triantafyllou, S.Schizas, D.Michalinos, A.Balli, E.Mpoura, M.Charalabopoulos, A.Manatakis, D.K.Balalis, D.Bolger, J.Baban, C.Mastrosimone, A.McAnena, O.Quinn, A.Ó Súilleabháin, C.B.Hennessy, M.M.Ivanovski, I.Khizer, H.Ravi, N.Donlon, N.Cervellera, M.Vaccari, S.Bianchini, S.Sartarelli, lAsti, E.Bernardi, D.Merigliano, S.Provenzano, L.Scarpa, M.Saadeh, L.Salmaso, B.De Manzoni, G.Giacopuzzi, S.La Mendola, R.De Pasqual, C.A.Tsubosa, Y.Niihara, M.Irino, T.Makuuchi, R.Ishii, K.Mwachiro, M.Fekadu, A.Odera, A.Mwachiro, E.AlShehab, D.Ahmed, H.A.Shebani, A.O.Elhadi, A.Elnagar, F.A.Elnagar, H.F.Makkai-Popa, S.T.Wong, L.F.Yr, TanS, ThannimalaiCa, HoWs, PangJh, TanHnl, BasaveCortés-González, R.Lagarde, S.M.van Lanschot, J.J.B.Cords, C.Jansen, W.A.Martijnse, I.Matthijsen, R.Bouwense, S.Klarenbeek, B.Verstegen, M.van Workum, F.Ruurda, J.P.van der Sluis, P.C.de Maat, M.Evenett, N.Johnston, P.Patel, R.MacCormick, A.Young, M.Smith, B.Ekwunife, C.Memon, A.H.Shaikh, K.Wajid, A.Khalil, N.Haris, M.Mirza, Z.U.Qudus, S.B.A.Sarwar, M.Z.Shehzadi, A.Raza, A.Jhanzaib, M.H.Farmanali, J.Zakir, Z.Shakeel, O.Nasir, I.Khattak, S.Baig, M.Noor, M.A.Ahmed, H.H.Naeem, A.Pinho, A.C.da Silva, R.Bernardes, A.Campos, J.C.Matos, H.Braga, T.Monteiro, C.Ramos, P.Cabral, F.Gomes, M.P.Martins, P.C.Correia, A.M.Videira, J.F.Ciuce, C.Drasovean, R.Apostu, R.Paitici, S.Racu, A.E.Obleaga, C.V.Beuran, M.Stoica, B.Ciubotaru, C.Negoita, V.Cordos, I.Birla, R.D.Predescu, D.Hoara, P.A.Tomsa, R.Shneider, V.Agasiev, M.Ganjara, I.Gunjić, D.Veselinović, M.Babič, T.Chin, T.S.Shabbir, A.Kim, G.Crnjac, A.Samo, H.Díez del Val, I.Leturio, S.Ramón, J.M.Dal Cero, M.Rifá, S.Rico, M.Pagan Pomar, A.Martinez Corcoles, J.A.Rodicio Miravalles, J.L.Pais, S.A.Turienzo, S.A.Alvarez, L.S.Campos, P.V.Rendo, A.G.García, S.S.Santos, E.P.G.Martínez, E.T.Fernández Díaz, M.J.Magadán Álvarez, C.Concepción Martín, V.Díaz López, C.Rosat Rodrigo, A.Pérez Sánchez, L.E.Bailón Cuadrado, M.Tinoco Carrasco, C.Choolani Bhojwani, E.Sánchez, D.P.Ahmed, M.E.Dzhendov, T.Lindberg, F.Rutegård, M.Sundbom, M.Mickael, C.Colucci, N.Schnider, A.Er, S.Kurnaz, E.Turkyilmaz, S.Turkyilmaz, A.Yildirim, R.Baki, B.E.Akkapulu, N.Karahan, O.Damburaci, N.Hardwick, R.Safranek, P.Sujendran, V.Bennett, J.Afzal, Z.Shrotri, M.Chan, B.Exarchou, K.Gilbert, T.Amalesh, T.Mukherjee, D.Mukherjee, S.Wiggins, T.H.Kennedy, R.McCain, S.Harris, A.Dobson, G.Davies, N.Wilson, I.Mayo, D.Bennett, D.Young, R.Manby, P.Blencowe, N.Schiller, M.Byrne, B.Mitton, D.Wong, V.Elshaer, A.Cowen, M.Menon, V.Tan, L.C.McLaughlin, E.Koshy, R.Sharp, C.Brewer, H.Das, N.Cox, M.Al Khyatt, W.Worku, D.Iqbal, R.Walls, L.McGregor, R.Fullarton, G.Macdonald, A.MacKay, C.Craig, C.Dwerryhouse, S.Hornby, S.Jaunoo, S.Wadley, M.Baker, C.Saad, M.Kelly, M.Davies, A.Di Maggio, F.Mistry, P.Singhal, R.Tucker, O.Kapoulas, S.Powell-Brett, S.Davis, P.Bromley, G.Watson, L.Verma, R.Ward, J.Shetty, V.Ball, C.Pursnani, K.Sarela, A.Sue Ling, H.Mehta, S.Hayden, J.To, N.Palser, T.Hunter, D.Supramaniam, K.Butt, Z.Ahmed, A.Kumar, S.Chaudry, A.Moussa, O.Kordzadeh, A.Lorenzi, B.Wilson, M.Patil, P.Noaman, I.Willem, J.Bouras, G.Evans, R.Singh, M.Warrilow, H.Ahmad, A.Tewari, N.Yanni, F.Couch, J.Theophilidou, E.Reilly, J.J.van Boxel, GijsAkbari, K.Zanotti, D.Sgromo, B.Sanders, G.Wheatley, T.Ariyarathenam, A.Reece-Smith, A.Humphreys, L.Choh, C.Carter, N.Knight, B.Pucher, P.Athanasiou, A.Tan, B.Abdulrahman, M.Vickers, J.Akhtar, K.Chaparala, R.Brown, R.Alasmar, M.M.A.Ackroyd, R.Patel, K.Tamhankar, A.Wyman, A.Walker, R.Grace, B.Abbassi, N.Slim, N.Ioannidi, L.Blackshaw, G.Havard, T.Escofet, X.Powell, A.Owera, A.Rashid, F.Jambulingam, P.Padickakudi, J.Ben-Younes, H.Mccormack, K.Makey, I.A.Karush, M.K.Seder, C.W.Liptay, M.J.Chmielewski, G.Rosato, E.L.Berger, A.C.Zheng, R.Okolo, E.Singh, A.Scott, C.D.Weyant, M.J.Mitchell, J.D.
European Journal of Surgical Oncology. 50(6)
Academic Journal
Kamarajah, S.K.Evans, R.P.T.Nepogodiev, D.Hodson, J.Bundred, J.R.Gockel, I.Gossage, J.A.Isik, A.Kidane, B.Mahendran, H.A.Negoi, I.Okonta, K.E.Sayyed, R.van Hillegersberg, R.Vohra, R.S.Wijnhoven, B.P.L.Singh, P.Griffiths, E.A.Alderson, D.Bundred, J.Gossage, J.Jefferies, B.McKay, S.Mohamed, I.Siaw-Acheampong, K.Vohra, R.Wanigasooriya, K.Whitehouse, T.Gjata, A.Moreno, J.I.Takeda, F.R.Guevara Castro, R.Harustiak, T.Bekele, A.Kechagias, A.Kennedy, A.Da Roit, A.Bagajevas, A.Azagra, J.S.Mejía-Fernández, L.El Kafsi, J.Sayyed, R.H.Sousa, M.Sampaio, A.S.Blanco, R.Wallner, B.Schneider, P.M.Hsu, P.K.Gananadha, S.Wills, V.Devadas, M.Duong, C.Talbot, M.Hii, M.W.Jacobs, R.Andreollo, N.A.Johnston, B.Darling, G.Isaza-Restrepo, A.Rosero, G.Arias-Amézquita, F.Raptis, D.Gaedcke, J.Reim, D.Izbicki, J.Egberts, J.H.Dikinis, S.Kjaer, D.W.Larsen, M.H.Achiam, M.P.Saarnio, J.Theodorou, D.Liakakos, T.Korkolis, D.P.Robb, W.B.Collins, C.Murphy, T.Reynolds, J.Tonini, V.Migliore, M.Bonavina, L.Valmasoni, M.Bardini, R.Weindelmayer, J.Terashima, M.White, R.E.Alghunaim, E.Elhadi, M.Leon-Takahashi, A.M.Medina-Franco, H.Lau, P.C.Heisterkamp, J.Rosman, C.Beban, G.Babor, R.Gordon, A.Rossaak, J.I.Pal, K.M.I.Qureshi, A.U.Naqi, S.A.Syed, A.A.Barbosa, J.Vicente, C.S.Leite, J.Freire, J.Casaca, R.Costa, R.C.T.Scurtu, R.R.Mogoanta, S.S.Bolca, C.Constantinoiu, S.Sekhniaidze, D.Bjelović, M.So, J.B.Y.Gačevski, G.Loureiro, C.Pera, M.Bianchi, A.Moreno Gijón, M.Martín Fernández, J.Trugeda Carrera, M.S.Vallve-Bernal, M.Cítores Pascual, M.A.Elmahi, S.Halldestam, I.Hedberg, J.Mönig, S.Gutknecht, S.Tez, M.Guner, A.Tirnaksiz, M.B.Colak, E.Sevinç, B.Hindmarsh, A.Khan, I.Khoo, D.Byrom, R.Gokhale, J.Wilkerson, P.Jain, P.Chan, D.Robertson, K.Iftikhar, S.Skipworth, R.Forshaw, M.Higgs, S.Nijjar, R.Viswanath, Y.K.S.Turner, P.Dexter, S.Boddy, A.Allum, W.H.Oglesby, S.Cheong, E.Beardsmore, D.Maynard, N.Berrisford, R.Mercer, S.Puig, S.Melhado, R.Kelty, C.Underwood, T.Dawas, K.Lewis, W.Al-Bahrani, A.Bryce, G.Thomas, M.Arndt, 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Academic Journal
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European Journal of Surgical Oncology. 49(9)
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